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This gene encodes a DNA-dependent adenosine triphosphate (ATP)-metabolizing enzyme that functions as a 5' to 3' DNA helicase. The encoded protein can resolve G-quadruplex structures and RNA-DNA hybrids at the ends of chromosomes. It also prevents telomere elongation by inhibiting the actions of telomerase. Alternative splicing and the use of alternative start codons results in multiple isoforms that are differentially localized to either the mitochondria or the nucleus. [provided by RefSeq, Nov 2013]
PIF1 (PIF1 5'-To-3' DNA Helicase) is a Protein Coding gene. Diseases associated with PIF1 include Uterine Adnexa Cancer and Fanconi Anemia, Complementation Group J. Gene Ontology (GO) annotations related to this gene include magnesium ion binding and DNA helicase activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0000287 | magnesium ion binding | IDA | 16522649 |
GO:0003677 | DNA binding | IEA | -- |
GO:0003678 | DNA helicase activity | IEA | -- |
GO:0004386 | helicase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000781 | chromosome, telomeric region | IDA | 16522649 |
GO:0005634 | nucleus | IEA | -- |
GO:0005657 | replication fork | IBA | 21873635 |
GO:0005739 | mitochondrion | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000002 | mitochondrial genome maintenance | IEA | -- |
GO:0000723 | telomere maintenance | IEA | -- |
GO:0006260 | DNA replication | IBA | 21873635 |
GO:0006281 | DNA repair | IEA | -- |
GO:0006310 | DNA recombination | IEA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
58-64-0 |
|
ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | · | 8c | ^ | 9a | · | 9b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||||||||
SP5: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PIF1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PIF1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PIF1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Pif1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Pif1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | PIF1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PIF1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PIF1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PIF1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pif1 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.24414 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | pif1 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG3238 30 31 32 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007775 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | pif-1 30 31 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | RRM3 31 |
|
OneToMany | |
PIF1 31 33 |
|
OneToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 15 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
812694 | Uncertain Significance: Recurrent spontaneous abortion | 64,823,830(-) |
G/A NM_001286496.2(PIF1):c.506C>T (p.Thr169Ile) |
MISSENSE | |
rs114090726 | Benign: not provided | 64,816,665(-) |
C/T NM_001286496.2(PIF1):c.1775G>A (p.Arg592His) |
MISSENSE | |
rs115283567 | Benign: not provided | 64,816,348(-) |
C/T NM_001286496.2(PIF1):c.1876G>A (p.Asp626Asn) |
MISSENSE_VARIANT,INTRON | |
rs140972674 | Benign: not provided | 64,819,124(-) |
C/G NM_001286496.2(PIF1):c.1433G>C (p.Gly478Ala) |
MISSENSE | |
rs141363784 | Benign: not provided | 64,816,333(-) |
C/G NM_001286496.2(PIF1):c.1891G>C (p.Ala631Pro) |
MISSENSE_VARIANT,INTRON |
Disorder | Aliases | PubMed IDs |
---|---|---|
uterine adnexa cancer |
|
|
fanconi anemia, complementation group j |
|
|
spinocerebellar ataxia 36 |
|
|
rothmund-thomson syndrome, type 2 |
|
|
fanconi anemia, complementation group a |
|
|